论文部分内容阅读
目的探讨唐氏征筛查在检出胎儿异常染色体中的价值;方法取唐氏综合征高风险孕妇462例对其行羊膜腔穿刺,羊水细胞培养、染色体核型分析;结果羊水细胞培养成功率为100%,检出异常核型35例,其中21-三体7例(包括罗伯逊易位1例),18-三体3例,染色体结构异常2例,多态性变异20例,性染色体数目异常3例,其它异常1例;结论唐氏征筛查不仅有助于避免唐氏综合征患儿出生,对其它染色体异常也有警示作用。
Objective To investigate the value of Down’s syndrome screening in detection of fetal abnormal chromosomes. Methods 462 pregnant women with Down’s syndrome risk were enrolled in this study. The amniocentesis, amniotic fluid cell culture and karyotype analysis were performed. Results The success rate of amniotic fluid cell culture (Including Robertsonian translocation in 1 case), 18 cases of trisomy in 3 cases, 2 cases of abnormal chromosomal structure, 20 cases of polymorphic variation and 20 cases of sex chromosome The number of abnormalities in 3 cases, 1 case of other abnormalities; Conclusion Down’s syndrome screening not only helps to prevent the birth of children with Down’s syndrome, but also for other chromosomal abnormalities also have a warning effect.